Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8425
Gene name	Latent transforming growth factor beta binding protein 4
Gene symbol	LTBP4
Synonyms (NCBI Gene)	ARCL1CLTBP-4LTBP4LLTBP4S
Chromosome	19
Chromosome location	19q13.2
Summary	The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other pro

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199678003	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199887429	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200036888	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200338042	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267607228	C>A	Pathogenic	Coding sequence variant, stop gained
rs267607229	T>G	Pathogenic	Missense variant, coding sequence variant
rs397515430	C>T	Pathogenic	Stop gained, coding sequence variant
rs606231159	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs606231160	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs606231161	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs747013505	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, upstream transcript variant, coding sequence variant
rs797044471	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1382026467	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1555744253	T>G	Pathogenic	Coding sequence variant, stop gained
rs1568406407	C>T	Pathogenic	Coding sequence variant, stop gained
rs1599879104	->T	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017571	hsa-miR-335-5p	Microarray	18185580
MIRT440306	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440306	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1122176	hsa-miR-3163	CLIP-seq
MIRT1122177	hsa-miR-340	CLIP-seq
MIRT1122178	hsa-miR-3616-3p	CLIP-seq
MIRT1122179	hsa-miR-3647-3p	CLIP-seq
MIRT1122180	hsa-miR-4282	CLIP-seq
MIRT1122181	hsa-miR-4761-3p	CLIP-seq
MIRT1122182	hsa-miR-590-3p	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
E2F4	Unknown	23741501
GATA1	Unknown	23741501
SMAD3	Unknown	23741501
SP1	Unknown	23741501

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001527	Component	Microfibril	IEA
GO:0001527	Component	Microfibril	ISS
GO:0001558	Process	Regulation of cell growth	TAS	9660815
GO:0005024	Function	Transforming growth factor beta receptor activity	NAS	9660815
GO:0005178	Function	Integrin binding	NAS	9660815
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 25037231, 27559042, 28675934
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	NAS	9660815
GO:0005509	Function	Calcium ion binding	TAS	9271198
GO:0005515	Function	Protein binding	IPI	12429738, 19349279, 21078624, 27339457
GO:0005539	Function	Glycosaminoglycan binding	NAS	9660815
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0006457	Process	Protein folding	TAS	9660815
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	TAS	9660815
GO:0019838	Function	Growth factor binding	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27559042, 28675934
GO:0031012	Component	Extracellular matrix	IDA	9660815, 16157329
GO:0031012	Component	Extracellular matrix	IEA
GO:0046879	Process	Hormone secretion	IEA
GO:0048251	Process	Elastic fiber assembly	ISS
GO:0050431	Function	Transforming growth factor beta binding	IBA
GO:0050431	Function	Transforming growth factor beta binding	IDA	9660815
GO:0050431	Function	Transforming growth factor beta binding	IEA
GO:0050431	Function	Transforming growth factor beta binding	IPI	10930463

MIM	HGNC	e!Ensembl
604710	6717	ENSG00000090006

Q8N2S1

Protein name

Latent-transforming growth factor beta-binding protein 4 (LTBP-4)

Protein function

Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-a

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07645	EGF_CA	357 → 396	Calcium-binding EGF domain	Domain
PF00683	TB	417 → 462	TB domain	Family
PF12661	hEGF	556 → 576	Human growth factor-like EGF	Domain
PF07645	EGF_CA	587 → 627	Calcium-binding EGF domain	Domain
PF12662	cEGF	651 → 674	Complement Clr-like EGF-like	Domain
PF12661	hEGF	682 → 702	Human growth factor-like EGF	Domain
PF07645	EGF_CA	710 → 750	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	752 → 792	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	834 → 876	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	878 → 918	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	920 → 959	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	961 → 1003	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1005 → 1047	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1049 → 1089	Calcium-binding EGF domain	Domain
PF00683	TB	1192 → 1238	TB domain	Family
PF07645	EGF_CA	1253 → 1294	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1296 → 1336	Calcium-binding EGF domain	Domain
PF00683	TB	1360 → 1404	TB domain	Family
PF07645	EGF_CA	1574 → 1617	Calcium-binding EGF domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle, pancreas, uterus, and small intestine. Weakly expressed in placenta and lung. {ECO:0000269|PubMed:9271198, ECO:0000269|PubMed:9660815}.

Sequence

MPRPGTSGRRPLLLVLLLPLFAAATSAASPSPSPSQVVEVPGVPSRPASVAVCRCCPGQT
SRRSRCIRAFCRVRSCQPKKCAGPQRCLNPVPAVPSPSPSVRKRQVSLNWQPLTLQEARA
LLKRRRPRGPGGRGLLRRRPPQRAPAGKAPVLCPLICHNGGVCVKPDRCLCPPDFAGKFC
QLHSSGARPPAPAVPGLTRSVYTMPLANHRDDEHGVASMVSVHVEHPQEASVVVHQVERV
SGPWEEADAEAVARAEAAARAEAAAPYTVLAQSAPREDGYSDASGFGYCFRELRGGECAS
PLPGLRTQEVCCRGAGLAWGVHDCQLCSERLGNSERVSAPDGPCPTGFERVNGSCEDVDE
CATGGRCQHGECANTRGGYTCVCPDGFLLDSSRSSCISQHVISEAKGPCFRVLRDGGCSL
PILRNITKQICCCSRVGKAWGRGCQLCPPFGSEGFREICPAGPGYHYSASDLRYNTRPLG
QEPPRVSLSQPRTLPATSRPSAGFLPTHRLEPRPEPRPDPRPGPELPLPSIPAWTGPEIP
ESGPSSGMCQRNPQVCGPGRCISRPSGYTCACDSGFRLSPQGTRCIDVDECRRVPPPCAP
GRCENSPGSFRCVCGPGFRAGPRAAECLDVDECHRVPPPCDLGRCENTPGSFLCVCPAGY
QAAPHGASCQDVDECTQSPGLCGRGACKNLPGSFRCVCPAGFRGSACEEDVDECAQEPPP
CGPGRCDNTAGSFHCACPAGFRSRGPGAPCQDVDECARSPPPCTYGRCENTEGSFQCVCP
MGFQPNTAGSECEDVDECENHLACPGQECVNSPGSFQCRTCPSGHHLHRGRCTDVDECSS
GAPPCGPHGHCTNTEGSFRCSCAPGYRAPSGRPGPCADVNECLEGDFCFPHGECLNTDGS
FACTCAPGYRPGPRGASCLDVDECSEEDLCQSGICTNTDGSFECICPPGHRAGPDLASCL
DVDECRERGPALCGSQRCENSPGSYRCVRDCDPGYHAGPEGTCDDVDECQEYGPEICGAQ
RCENTPGSYRCTPACDPGYQPTPGGGCQDVDECRNRSFCGAHAVCQNLPGSFQCLCDQGY
EGARDGRHCVDVNECETLQGVCGAALCENVEGSFLCVCPNSPEEFDPMTGRCVPPRTSAG
TFPGSQPQAPASPVLPARPPPPPLPRRPSTPRQGPVGSGRRECYFDTAAPDACDNILARN
VTWQECCCTVGEGWGSGCRIQQCPGTETAEYQSLCPHGRGYLAPSGDLSLRRDVDECQLF
RDQVCKSGVCVNTAPGYSCYCSNGYYYHTQRLECIDNDECADEEPACEGGRCVNTVGSYH
CTCEPPLVLDGSQRRCVSNESQSLDDNLGVCWQEVGADLVCSHPRLDRQATYTECCCLYG
EAWGMDCALCPAQDSDDFEALCNVLRPPAYSPPRPGGFGLPYEYGPDLGPPYQGLPYGPE
LYPPPALPYDPYPPPPGPFARREAPYGAPRFDMPDFEDDGGPYGESEAPAPPGPGTRWPY
RSRDTRRSFPEPEEPPEGGSYAGSLAEPYEELEAEECGILDGCTNGRCVRVPEGFTCRCF
DGYRLDMTRMACVDINECDEAEAASPLCVNARCLNTDGSFRCICRPGFAPTHQPHHCAPA
RPRA

Sequence length

1624

Interactions

View interactions

	Reactome
			Molecules associated with elastic fibres

252

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cutis laxa	Likely pathogenic	rs1568404922	RCV002470046
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Likely pathogenic; Pathogenic	rs970983655, rs781735457, rs2146020978, rs2146029786, rs747013505, rs606231159, rs606231160, rs267607228, rs267607229, rs606231161, rs2081592972, rs2081454038, rs1475578735, rs397515430, rs797044471 View all (4 more)	RCV001332723 RCV001783619 RCV001782409 RCV001808882 RCV000169666 RCV000005726 RCV000005727 RCV000005728 RCV000005729 RCV000005730 RCV003225799 RCV003221330 RCV004006206 RCV000033129 RCV000033130 RCV000033131 RCV000779629 RCV000985144 RCV001257133
LTBP4-related disorder	Likely pathogenic; Pathogenic	rs970983655, rs2146028500, rs1286740150	RCV004746327 RCV003421102 RCV003893318

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Uncertain significance; Benign; Likely benign	rs374435431, rs34093919, rs374427407	RCV005922895 RCV005898014 RCV005898762
Cervical cancer	Benign; Likely benign	rs141810975, rs34093919	RCV005894965 RCV005898016
Cholangiocarcinoma	Benign; Likely benign	rs141724981, rs34093919	RCV005918582 RCV005898025
Clear cell carcinoma of kidney	Benign; Likely benign	rs117273116, rs34093919	RCV005894819 RCV005898017
Colon adenocarcinoma	Benign; Likely benign	rs34093919	RCV005898013
Cutis Laxa Syndrome	not provided	rs1027642827	RCV000509310
Familial cancer of breast	Benign	rs141810975	RCV005894964
Gastric cancer	Benign; Conflicting classifications of pathogenicity; Likely benign	rs141724981, rs41470347, rs768587659, rs200914063, rs34093919, rs374427407	RCV005918580 RCV005894962 RCV005894826 RCV005894824 RCV005898020 RCV005898763
Lung cancer	Benign; Likely benign	rs141724981, rs117273116, rs34093919, rs148715056	RCV005918583 RCV005894821 RCV005898026 RCV005898916
Malignant lymphoma, large B-cell, diffuse	Benign	rs41470347	RCV005894961
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	rs200914063, rs34093919, rs148715056	RCV005894822 RCV005898015 RCV005898914
Malignant tumor of urinary bladder	Benign	rs148715056	RCV005898913
Melanoma	Benign; Likely benign	rs34093919	RCV005898024
Nonpapillary renal cell carcinoma	Benign; Conflicting classifications of pathogenicity	rs41470347, rs200914063	RCV005894960 RCV005894823
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs374435431, rs200914063, rs117273116, rs34093919, rs148715056	RCV005922896 RCV005894825 RCV005894820 RCV005898021 RCV005898915
Sarcoma	Uncertain significance; Benign; Likely benign	rs369387310, rs34093919	RCV005919029 RCV005898019
Thymoma	Benign; Likely benign	rs141724981, rs41470347, rs34093919	RCV005918581 RCV005894963 RCV005898022
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs34093919	RCV005898023
Uterine carcinosarcoma	Likely benign	rs148069884	RCV005915069
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs141810975, rs34093919	RCV005894966 RCV005898027
Uveal melanoma	Benign; Likely benign	rs34093919	RCV005898018

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Inhibit	23741501
Androgen Insensitivity Syndrome	Associate	25313366
Aneurysm	Associate	38293922
Aortic Stenosis Supravalvular	Associate	38293922
Bicuspid Aortic Valve Disease	Associate	27298013, 38293922
Breast Neoplasms	Associate	21527583
Carcinoma Squamous Cell	Inhibit	23741501
Cardiomyopathy Dilated	Associate	26513582, 26918958
Colorectal Neoplasms	Associate	20459617
Conversion Disorder	Associate	16456143
Cutis Laxa	Associate	19836010
Diabetes Mellitus Type 2	Associate	36524797
Diverticulum	Associate	19836010
Ectrodactyly cardiopathy dysmorphism	Associate	35897138
Endocardial Fibroelastosis	Stimulate	32658840
Esophageal Neoplasms	Associate	23741501
Fibrosis	Inhibit	34516828
Gastrointestinal Diseases	Associate	19836010
Genitourinary Tract Anomalies	Associate	22829427
Glioblastoma	Associate	27270107
Hernia Diaphragmatic	Associate	19836010
Hydronephrosis	Associate	19836010
Hypersensitivity Immediate	Associate	22829427
Long QT Syndrome	Associate	30014611
Lung Diseases	Associate	24498427, 26635082
Mobility Limitation	Associate	25641372, 30014611, 36011296
Muscle Weakness	Associate	32343055
Muscular Dystrophies	Associate	23440719, 26918958, 34516828
Muscular Dystrophy Duchenne	Associate	23440719, 25476005, 25641372, 26513582, 27745838, 30014611, 32343055, 34516828, 35897138, 36011296, 36524797
Neoplasms	Inhibit	23741501
Neoplasms	Associate	27270107
Pulmonary Disease Chronic Obstructive	Associate	16456143, 24498427
Pulmonary Emphysema	Associate	22829427
Respiratory Distress Syndrome	Associate	19836010
Sarcopenia	Associate	36524797
Subarachnoid Hemorrhage	Associate	39181687
Tooth Loss	Associate	23440719
Tracheomalacia	Associate	19836010
Tricuspid Valve Stenosis	Associate	27298013
Williams Syndrome	Associate	38293922

LTBP4 (latent transforming growth factor beta binding protein 4)